一名患有腭裂和智力障碍男孩的新发13号染色体臂间倒位
De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.
作者信息
Riccardi V M, Holmquist G P
出版信息
Hum Genet. 1979 Nov;52(2):211-5.
PMID:511176
Abstract
A paracentric inversion in chromosome 13, inv(13)(q12q22), is described in a boy with mild mental retardation and multiple minor anomalies. Bromodeoxyuridine-late replication studies showed no changes in the replication pattern of bands in the abnormal chromosome 13. The relation between the proband's phenotype and his inv(13) is unclear.
摘要
在一名患有轻度智力障碍和多种轻微异常的男孩中，发现了13号染色体的臂内倒位，inv(13)(q12q22)。溴脱氧尿苷延迟复制研究显示，异常的13号染色体上条带的复制模式没有变化。先证者的表型与他的inv(13)之间的关系尚不清楚。
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